Genopathy
Gene-Disorder Association · Article
Gene
LOC126862549
BRD4-Independent Group 4 Enhancer GRCh37_chr17:36093401-36094600
Manually curated
Association Review

In brief

The association between LOC126862549 (BRD4-Independent Group 4 Enhancer GRCh37_chr17:36093401-36094600) and Renal Cysts And Diabetes Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 50
Symptoms 91
Compounds 0
Trials 0
Publications 21
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
LOC126862549

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Renal Cysts And Diabetes Syndrome

The disorder

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

59 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

50 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Literature

Reading

21 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
08
Provenance

References & sources

14 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access